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Identification of founder MYBPC3 gene mutations in hungarian patients with hypertrophic cardiomyopathy

Session Poster Session 1

Speaker Annamaria Tringer

Event : Heart Failure 2019

  • Topic : heart failure
  • Sub-topic : Chronic Heart Failure – Epidemiology, Prognosis, Outcome
  • Session type : Poster Session

Authors : A Tringer (Szeged,HU), L Hategan (Szeged,HU), B Csanyi (Szeged,HU), J Borbas (Szeged,HU), E Palinkas (Szeged,HU), V Nagy (Szeged,HU), Z Hegedus (Szeged,HU), I Nagy (Szeged,HU), T Forster (Szeged,HU), R Sepp (Szeged,HU)

A Tringer1 , L Hategan1 , B Csanyi1 , J Borbas1 , E Palinkas1 , V Nagy1 , Z Hegedus2 , I Nagy2 , T Forster1 , R Sepp1 , 1University of Szeged, 2nd Department of Internal Medicine and Cardiology Centre - Szeged - Hungary , 2Biological Research Centre of Szeged - Szeged - Hungary ,


Background: Hypertrophic cardiomyopathy (HCM) is a primary disease of the myocardium most commonly caused by the mutations in sarcomeric genes. Mutations underlying HCM are mostly unique, „private" mutations. However, the presence of so-called "founder" mutations is also known, where a mutation, occurring in a common ancestor earlier, is present in high frequency in a population, seemingly in non-related patients.

Purpose: We were searching for founder mutations in Hungarian patients with HCM genotyped by next-generation sequencing.

Patient and methods: We examined 133 patients with HCM (81 men, 52 women, average age: 45±15 years). Familial disease was present in 26% of the cases. Maximal left ventricular (LV) wall thickness was 22±6 mm and significant LV outflow tract gradient was observed in 28 patients. Using next-generation sequencing we screened 103 known causative cardiomyopathy genes, the target region consisted of 500.000 base pairs.

Results: Pathogenic or likely pathogenic variants were identified in 66% of the patients. Pathogenic variants most commonly affected the MYBPC3 (35%) and the MYH7 genes (16%). Multiple occurrence of mutations were observed in case of 6 gene mutations among the 133 patients [MYBPC3 p.Ala1056fs: 2 patients (1.5%), p.Arg495Gln: 3 patients (2.3%), p.Gln1233Stop: 9 patients (6.8%), p.Pro955fs: 6 patients (4.5%), p.Ser593fs: 7 patients (5.3%) and MYH7 p.Arg663Cys: 3 patients (2.3%)]. Haplotype analysis of the mutations suggested a founder effect in case of MYBPC3 p.Gln1233Stop, p.Pro955fs and p.Ser593fs mutations.

Conclusion: According to our results founder mutations are present in the Hungarian HCM population. The MYBPC3 gene p.Gln1233Stop, p.Pro955fs and p.Ser593fs founder mutations affect approximately 17% of the Hungarian HCM patients.

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